ANTI-GTF2IRD1

General description

GTF2IRD1 codes for a GTF2I repeat domain containing protein. It is involved in craniofacial and cognitive development. Genetic variations in GTF2IRD1 are associated with Williams-Beuren syndrome (WBS).
Rabbit Anti-GTF2IRD1 antibody recognizes chicken, human, mouse, rat, bovine, and canine GTF2IRD1.

Immunogen

Synthetic peptide directed towards the C terminal region of human GTF2IRD1

Application

Rabbit Anti-GTF2IRD1 antibody is suitable for western blot (2.5 μg/ml) and IHC (4-8 μg/ml) applications.

Biochem/physiol Actions

GTF2IRD1 contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. GTF2IRD1 is related to Williams-Beuren syndrome, a multisystem developmental disorder. Western blots using three different antibodies against three unique regions of this protein target confirm the same apparent molecular weight in our tests. The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.

Sequence

Synthetic peptide located within the following region: VIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNSVSSSSSSSSSSS

Physical form

Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

Disclaimer

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.